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X-Linked TLR7 Defic...
X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia
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- Abolhassani, Hassan (författare)
- Karolinska Institutet
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- Vosughimotlagh, Ahmad (författare)
- North Khorasan Univ Med Sci, Dept Pediat, Bojnurd, Iran
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- Asano, Takaki (författare)
- Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA
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- Landegren, Nils, 1986- (författare)
- Karolinska Institutet,Uppsala universitet,Autoimmunitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi,Klinisk diabetologi och metabolism,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden
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- Boisson, Bertrand (författare)
- Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA.;Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM U1163, Paris, France.;Univ Paris, Imagine Inst, Paris, France
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- Delavari, Samaneh (författare)
- Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran
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- Bastard, Paul (författare)
- Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM U1163, Paris, France.;Univ Paris, Imagine Inst, Paris, France
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- Aranda-Guillen, Maribel (författare)
- Karolinska Institutet
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- Wang, Yating (författare)
- Karolinska Institutet
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- Zuo, Fanglei (författare)
- Karolinska Institutet
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- Sardh, Fabian (författare)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.
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- Marcotte, Harold (författare)
- Karolinska Institutet
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- Du, Likun (författare)
- Karolinska Institutet
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- Zhang, Shen-Ying (författare)
- Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA
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- Zhang, Qian (författare)
- Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA
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- Rezaei, Nima (författare)
- Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran
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- Kampe, Olle (författare)
- Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden
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- Casanova, Jean-Laurent (författare)
- Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA.;Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM U1163, Paris, France.;Univ Paris, Imagine Inst, Paris, France.;Howard Hughes Med Inst, New York, NY USA
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- Hammarstrom, Lennart (författare)
- Karolinska Institutet
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- Pan-Hammarstrom, Qiang (författare)
- Karolinska Institutet
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(creator_code:org_t)
- 2021-10-23
- 2022
- Engelska.
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Ingår i: Journal of Clinical Immunology. - : Springer Science and Business Media LLC. - 0271-9142 .- 1573-2592. ; 42:1, s. 1-9
- Relaterad länk:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Background Coronavirus disease 2019 (COVID-19) exhibits a wide spectrum of clinical manifestations, ranging from asymptomatic to critical conditions. Understanding the mechanism underlying life-threatening COVID-19 is instrumental for disease prevention and treatment in individuals with a high risk.Objectives We aimed to identify the genetic cause for critical COVID-19 pneumonia in a patient with a preexisting inborn error of immunity (IEI).Methods Serum levels of specific antibodies against the virus and autoantibodies against type I interferons (IFNs) were measured. Whole exome sequencing was performed, and the impacts of candidate gene variants were investigated. We also evaluated 247 ataxia-telangiectasia (A-T) patients in the Iranian IEI registry.Results We report a 7-year-old Iranian boy with a preexisting hyper IgM syndrome who developed critical COVID-19 pneumonia. IgM only specific COVID-19 immune response was detected but no autoantibodies against type I IFN were observed. A homozygous deleterious mutation in the ATM gene was identified, which together with his antibody deficiency, radiosensitivity, and neurological signs, established a diagnosis of A-T. Among the 247 A-T patients evaluated, 36 had SARS-CoV-2 infection, but all had mild symptoms or were asymptomatic except the index patient. A hemizygous deleterious mutation in the TLR7 gene was subsequently identified in the patient.Conclusions We report a unique IEI patient with combined ATM and TLR7 deficiencies. The two genetic defects underlie A-T and critical COVID-19 in this patient, respectively.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Public Health, Global Health, Social Medicine and Epidemiology (hsv//eng)
Nyckelord
- COVID-19
- critical COVID-19
- inborn errors of immunity
- primary immunodeficiency
- antibody deficiency
- ataxia-telangiectasia
- ATM
- TLR7
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Abolhassani, Has ...
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Vosughimotlagh, ...
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Asano, Takaki
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Landegren, Nils, ...
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Boisson, Bertran ...
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Delavari, Samane ...
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visa fler...
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Bastard, Paul
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Aranda-Guillen, ...
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Wang, Yating
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Zuo, Fanglei
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Sardh, Fabian
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Marcotte, Harold
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Du, Likun
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Zhang, Shen-Ying
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Zhang, Qian
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Rezaei, Nima
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Kampe, Olle
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Casanova, Jean-L ...
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Hammarstrom, Len ...
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Pan-Hammarstrom, ...
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